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PHACE(S) syndrome

Gene: DUSP5

Red List (low evidence)

DUSP5 (dual specificity phosphatase 5)
EnsemblGeneIds (GRCh38): ENSG00000138166
EnsemblGeneIds (GRCh37): ENSG00000138166
OMIM: 603069, Gene2Phenotype
DUSP5 is in 1 panel

1 review

Rebecca Foulger (Genomics England curator)

Pramanik et al. (2009, PMID:) identified an apparently somatic ser147-to-pro (S147P) mutation in the DUSP5 gene in 1 of 3 infantile hemangioma (602089) samples.
Created: 10 Apr 2017, 2:56 p.m.


  • Other
  • infantile hemangioma, somatic
Clinvar variants
Variants in DUSP5
Panels with this gene

History Filter Activity

12 Apr 2017, Gel status: 0

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

Promoted to Version 1: April 12th 2017. At the time of curation (April 2017), no genetic causes of PHACE(s) were reported, and therefore there are no green genes on the V1.0 panel. Based on clinical advice, VHL is not included on the panel.

10 Apr 2017, Gel status: 0


Rebecca Foulger (Genomics England curator)

DUSP5 was created by rfoulger

10 Apr 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

DUSP5 was added to PHACE(S) syndromepanel. Sources: Other